染色体复杂核型异常及AZF微缺失致男性不育一例分析
A Case Analysis of Chromosome Complex Karyotype Abnormality and AZF Microdeletion Causing Male Infertility
摘要:
男性不育的影响因素很多,其中遗传因素是引起男性不育的重要原因之一,主要包括染色体结构和数目异常及生精相关基因的异常。本文介绍一例染色体复杂核型异常病例,并进行相关文献复习,提示Y染色体完整性对于保持男性生殖功能的重要性,其结构或数目异常以及相关基因的缺失可导致男性严重的生殖缺陷。
Abstract:
Many factors affect male infertility, genetic factors, among which, are one of the important causes, including abnormalities in chromosome structure and number, and abnormalities in genes related to spermatogenesis. This paper analyzes a case of complex karyotype abnormality of chromosomes and reviews related literatures, suggesting that the integrity of Y chromosomes is important for maintaining male reproductive function. The abnormal structure or number and the loss of related genes can lead to severe reproductive defects in males.
参考文献
|
[1]
|
Tiepolo, L. and Zuffardi, O. (1976) Localization of Factors Controlling Spermatogenesis in the Nonfluorescent Portion of the Human Y Chromosome Long Arm. Human Genetics, 34, 119-124.
http://www.ncbi.nlm.nih.gov/pubmed/1002136
[Google Scholar] [CrossRef]
|
|
[2]
|
Sachdeva, K., Saxena, R., Majumdar, A., et al. (2011) Use of Ethnic-ityspecific Sequence Tag Site Markers for Y Chromosome Microdeletion Tudies. Genetic Testing and Molecular Bi-omarkers, 15, 451-459.
http://www.ncbi.nlm.nih.gov/pubmed/21375402
[Google Scholar] [CrossRef] [PubMed]
|
|
[3]
|
Dohle, G.R., Diemer, T., Giwercman, A., et al. (2010) Guidelines on Male Infertility. 16-17.
|
|
[4]
|
Mau Kai, C., Juul, A., McElreavey, K., et al. (2008) Sons Conceived by Assisted Re-production Techniques Inherit Deletions in the A zoospermia Factor (AZF) Region of the Y Chromosome and the DAZ Gene Copy Number. Human Reproduction, 23, 1669-1678. http://www.ncbi.nlm.nih.gov/pubmed/18440997
[Google Scholar] [CrossRef] [PubMed]
|
|
[5]
|
Maurer, B., Gromoll, J., Simoni, M., et al. (2001) Prevalence of Y Chromosome Microdeletions in Infertile Men Who Consulted a Tertiary Care Medical Centre: The Munster Experience. Andrologia, 33, 27-33.
http://www.ncbi.nlm.nih.gov/pubmed/11167516
[Google Scholar] [CrossRef] [PubMed]
|
|
[6]
|
张丽芳, 许平, 曾艳, 等. 产前诊断中9号染色体异常的发生频率及其生殖遗传效应[J]. 中华医学遗传学杂志, 2014, 31(4): 531-532.
|
|
[7]
|
周建军, 王玢, 陈华, 等. 携带9号染色体臂间倒位的不孕症夫妇IVF/ICSI结局分析[J]. 生殖医学志, 2015, 24(11): 885-889.
|
|
[8]
|
张永科, 法萍萍, 谢君, 等. 686例生精障碍患者染色体核型与Y染色体微缺失分析[J]. 中国实验诊断学, 2018, 22(5): 769-773.
|